Non obstruktif azospermik hastalarda genetik nedenlerin araştırılması
Küçük Resim Yok
Tarih
2021
Yazarlar
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Yayıncı
İnönü Üniversitesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Amaç: İnfertilite dünya genelinde milyonlarca çifti etkileyen bir sağlık sorunudur. Başvuruların yaklaşık yarısından erkek infertilitesi sorumludur. Erkeklerin yaklaşık % 15'inde ve infertilitesi olan kadınların % 10'unda, kromozom anormallikleri ve tek gen mutasyonları dahil olmak üzere genetik anormallikler mevcut olabilir. Sonuç olarak gelecekte kısırlığın genetik nedenlerinin artmaması için genetik faktörlerin belirlenmesi, infertil çiftin uygun yönetimi için iyi bir uygulama haline gelmiştir. Biz, yapılan bu çalışmada infertilite nedeniyle başvuran ve Non-obstrüktif azoospermi tanısıyla testiküler sperm ekstraksiyonu (TESE) operasyonu yapılan hastaların genetik analiz sonuçları değerlendirildi. Bu çalışmada, erkek infertilitesinde spermatogenezi zayıflatan ya da engelleyen genetik defektlerin ortaya çıkması amaçlanmıştır. Gereç ve Yöntem: Çalışmamızda 26-44 yaş arası non-obstrüktif azospermik infertil hastalarda; periferik kanda kromozom analizi, moleküler karyotipleme, erkek infertilite paneli, testosteron, prolaktin, folliküler stimülan hormon ve lüteinizan hormon düzeylerinin karşılaştırılması ve bu parametrelerle genetik mutasyonların ilişkisinin incelenmesini amaçladık. Bulgular: Çalışmamızda 26 hastanın 1 tanesinde American College of Medical Genetics and Genomics (ACMG) 'in yayınladığı kriterlere göre patojenik olduğu kabul edilen INSL3 gen mutasyonu, ayrıca klinik önemi belirsiz varyant olarak 17 hastada FSHR gen polimorfizmi, 5 hastada CFTR mutasyonu, 1 hastada CATSPER1 ve TEX101, 1 hastada LHCGR, 1 hastada ZMYND15, 2 hastada DNAH5, 1 hastada DNAH11 değişikliği tespit edilmiştir. Yapılan kromozom analizinde 6 hastada 47XXY kleinefelter sendromu izlendi. Sonuçlar: Çıkan sonuçlar göstermiştir ki infertilite şikayeti ile başvuran non-obstrüktif azoospermik hastaların periferik kandan çalışılan kromozom analizi normal olsa dahi infertiliteye neden olan başka genetik değişiklikler olabilir. Altta yatan bu genetik bozuklukların araştırılması infertilitenin nedenini bulmamızda yardımcı olabilir.
Objective: Infertility is a health problem that affects millions of couples around the world. Male infertility is responsible for approximately half of the applications. About 15% of men and 10% of women with infertility may have genetic abnormalities, including chromosomal abnormalities and single gene mutations. As a result, the determination of genetic factors has become a good practice for the appropriate management of the infertile couple so that the genetic causes of infertility do not increase in the future. In this study, genetic analysis results of patients who applied for infertility and underwent testicular sperm extraction (TESE) operation with the diagnosis of Non-obstructive azoospermia were evaluated. In this study, it was aimed to reveal genetic defects that weaken or prevent spermatogenesis in male infertility. Materials and Methods: In our study, we aimed to compare peripheral blood chromosome analysis, molecular karyotyping, male infertility panel, testosterone, prolactin, follicular stimulating hormone and luteinizing hormone levels in nonobstructive azoospermic infertile patients aged 26-44 years, and to examine the relationship between these parameters and genetic mutations. Results: In our study, 1 of 26 patients had INSL3 gene mutation, which was considered pathogenic according to the criteria published by the American College of Medical Genetics and Genomics (ACMG), as well as FSHR gene polymorphism in 17 patients, CFTR mutations in 5 patients, CATSPER1 and TEX101 in 1 patient. , LHCGR in 1 patient, ZMYND15 in 1 patient, DNAH5 in 2 patients, and DNAH11 changes in 1 patient were detected. In the chromosome analysis, 47XXY kleinefelter syndrome was observed in 6 patients. Conclusion: The results show that non-obstructive azoospermic patients with infertility complaints may have other genetic changes that cause infertility, even if the chromosome vi analysis of the peripheral blood is normal. Investigating these underlying genetic disorders can help us find the cause of infertility.
Objective: Infertility is a health problem that affects millions of couples around the world. Male infertility is responsible for approximately half of the applications. About 15% of men and 10% of women with infertility may have genetic abnormalities, including chromosomal abnormalities and single gene mutations. As a result, the determination of genetic factors has become a good practice for the appropriate management of the infertile couple so that the genetic causes of infertility do not increase in the future. In this study, genetic analysis results of patients who applied for infertility and underwent testicular sperm extraction (TESE) operation with the diagnosis of Non-obstructive azoospermia were evaluated. In this study, it was aimed to reveal genetic defects that weaken or prevent spermatogenesis in male infertility. Materials and Methods: In our study, we aimed to compare peripheral blood chromosome analysis, molecular karyotyping, male infertility panel, testosterone, prolactin, follicular stimulating hormone and luteinizing hormone levels in nonobstructive azoospermic infertile patients aged 26-44 years, and to examine the relationship between these parameters and genetic mutations. Results: In our study, 1 of 26 patients had INSL3 gene mutation, which was considered pathogenic according to the criteria published by the American College of Medical Genetics and Genomics (ACMG), as well as FSHR gene polymorphism in 17 patients, CFTR mutations in 5 patients, CATSPER1 and TEX101 in 1 patient. , LHCGR in 1 patient, ZMYND15 in 1 patient, DNAH5 in 2 patients, and DNAH11 changes in 1 patient were detected. In the chromosome analysis, 47XXY kleinefelter syndrome was observed in 6 patients. Conclusion: The results show that non-obstructive azoospermic patients with infertility complaints may have other genetic changes that cause infertility, even if the chromosome vi analysis of the peripheral blood is normal. Investigating these underlying genetic disorders can help us find the cause of infertility.
Açıklama
Anahtar Kelimeler
Üroloji, Urology
